Inherited antithrombin III deficiency and cerebral thrombosis in a child

Identification of a family affected by antithrombin III-heparin cofactor (AT-III) deficiency was made after diagnosis of the index case, a 15-year-old boy who suffered cerebral thrombosis. The proband had a two-year history of recurrent thrombosis involving the lower extremities. His mother and sister were also affected. Studies showed a decreased biological activity (AT-IIIc) and antigen (AT-IIIag) by the Laurell technique in the proband (AT-IIIc = 0.32, AT-IIIag = 46%), his sister (AT-IIIc = 0.29, AT-IIIag = 47%), and his mother (AT- IIIc = 0.41, AT-IIIag 56%). Crossed immunoelectrophoresis (CIE) of the affected individuals' plasma in agarosecontaining heparin demonstrated a normal pattern of migration. Treatment with warfarin sodium (Coumadin) resulted in an increase in activity in two of three affected family members, and in antigen in all three. Anticoagulant therapy did not affect the pattern of AT-III on CIE. This family represents a quantitative deficiency in antithrombin III. A review of the reported cases of antithrombin III deficiency indicates that individuals with this disorder may have thromboembolic disease in childhood.

Download Full-text

Premature Arterial Disease Associated with Familial Antithrombin III Deficiency

Thrombosis and Haemostasis ◽

10.1055/s-0038-1645677 ◽

1990 ◽

Vol 63 (01) ◽

pp. 013-015 ◽

Cited By ~ 15

Author(s):

E J Johnson ◽

C R M Prentice ◽

L A Parapia

Keyword(s):

Risk Factors ◽

Venous Thromboembolism ◽

Potential Risk ◽

Antithrombin Iii ◽

Arterial Disease ◽

Coagulation System ◽

Early Age ◽

Arterial Thromboembolism ◽

Potential Risk Factors ◽

Antithrombin Iii Deficiency

SummaryAntithrombin III (ATIII) deficiency is one of the few known abnormalities of the coagulation system known to predispose to venous thromboembolism but its relation to arterial disease is not established. We describe two related patients with this disorder, both of whom suffered arterial thrombotic events, at an early age. Both patients had other potential risk factors, though these would normally be considered unlikely to lead to such catastrophic events at such an age. Thrombosis due to ATIII deficiency is potentially preventable, and this diagnosis should be sought more frequently in patients with arterial thromboembolism, particularly if occurring at a young age. In addition, in patients with known ATIII deficiency, other risk factors for arterial disease should be eliminated, if possible. In particular, these patients should be counselled against smoking.

Download Full-text

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

Thrombosis and Haemostasis ◽

10.1055/s-0038-1660123 ◽

1985 ◽

Vol 54 (04) ◽

pp. 744-745 ◽

Cited By ~ 29

Author(s):

R Vikydal ◽

C Korninger ◽

P A Kyrle ◽

H Niessner ◽

I Pabinger ◽

...

Keyword(s):

Venous Thrombosis ◽

Antithrombin Iii ◽

Positive Family History ◽

Normal Range ◽

The Family ◽

History Of ◽

Antithrombin Iii Deficiency ◽

Recurrent Venous Thrombosis ◽

Antithrombin Iii Activity ◽

Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

Download Full-text

Congenital Antithrombin III Deficiency in 3 Families (7 Affected Members)

10.1055/s-0038-1665841 ◽

1979 ◽

Author(s):

J. Conard ◽

M. Samama ◽

M. H. Horellou ◽

B. Cazenave ◽

P. Griguer ◽

...

Keyword(s):

Deep Vein Thrombosis ◽

Antithrombin Iii ◽

Oral Anticoagulants ◽

Vena Cava ◽

Oral Contraception ◽

Vein Thrombosis ◽

Heparin Treatment ◽

At Iii ◽

Antithrombin Iii Deficiency ◽

Deep Vein

A congenital Antithrombin III (AT III) deficiency affecting 7 members of 3 families is reported.The first throrabo-embolic accidents were observed between the age of 22 and 35 : they were spontaneous or occured after delivery or oral contraception. in one patient, a deep vein thrombosis was observed during heparin treatment. in 2 cases, recurrent pulmonary embolic episodes required vena cava ligation. No thromboembolic accident was observed during oral anticoagulation.AT III was measured by an amidolytic method and by the Mancini method on plasma and serum ; the antithrombin activity was determined on serum by the von Kaulla method. in 7 patients, a decreased AT III was found by all the methods performed. The AT III level was around 50 % in patients treated or not by oral anticoagulants One patient was studied during heparin treatment and then under oral anticoagulants : AT III levels were lower under heparin.

Download Full-text

Human medicines European public assessment report (EPAR): ATryn, antithrombin alfa, Antithrombin III Deficiency, Date of authorisation: 28/07/2006, Revision: 16, Status: Withdrawn

Case Medical Research ◽

10.31525/cmr-98d35d ◽

2019 ◽

Author(s):

Keyword(s):

Antithrombin Iii ◽

Assessment Report ◽

European Public ◽

European Public Assessment Report ◽

Antithrombin Iii Deficiency

Download Full-text

Epidural Caesarean Section in a Patient with Congenital Antithrombin III Deficiency

Anaesthesia and Intensive Care ◽

10.1177/0310057x9502300416 ◽

1995 ◽

Vol 23 (4) ◽

pp. 493-495 ◽

Cited By ~ 2

Author(s):

S. J. Rowbottom

Keyword(s):

Caesarean Section ◽

Antithrombin Iii ◽

Antithrombin Iii Deficiency

Download Full-text

Antithrombin III, Heparin Cofactor and Antifactor Xa in Relation to Age, sex And Pathological Conditions

10.1055/s-0039-1684568 ◽

1979 ◽

Author(s):

F. Panicucci ◽

A. Sacripanti ◽

E. Pinori ◽

M. Vispi ◽

B. Conte ◽

...

Keyword(s):

Oral Contraceptive ◽

Antithrombin Iii ◽

Normal Subjects ◽

Cerebral Thrombosis ◽

Positive Correlation ◽

Pathological Conditions ◽

At Iii ◽

The Mean ◽

Antifactor Xa ◽

Cofactor Activity

Determinations of AT-III activity, heparin cofactor activity, antifactor Xa activity and AT-III protein were carried out in 200 healthy adults, evenly distributed within age and sex groups, in 60 patients with cerebral thrombosis and in 20 oral contraceptive users. There was a positive correlation between AT-III protein and its activitiesin normal subjects and in patients with cerebral thrombosis. In oral contraceptive users the positive correlation was between AT-III protein and its activities, antifactor Xa activity excepted. The mean AT-III protein and heparin cofactor activity values decreased in males with age and were significantly lower in the groups between 50 and 70 years. The mean AT-III protein and heparin cofactor activity values decreased slightly in women in fertile age and were lower in the 40 to 50 age-group. The mean AT-III protein and its activities values did not show any variation in the patients with cerebral thrombosis. The mean antifactor Xa activity value in the women, taking the pill for 3 months, decreased, whereas the other AT-III activities and AT-III protein were unchanged.

Download Full-text